POMT2 mutation in a patient with 'MEB-like' phenotype

Neuromuscular Disorders

Volumn 16, Issue 7, 2006, Pages 446-448

  Mercuri, E ^a,b   D'Amico, A ^c   Tessa, A ^c   Berardinelli, A ^d   Pane, M ^a   Messina, S ^a   van Reeuwijk, J ^e   Bertini, E ^c   Muntoni, F ^b   Santorelli, F M ^c  

^a CATHOLIC UNIVERSITY   (Italy)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Brain; Congenital muscular dystrophy; POMT2

Indexed keywords

GENE PRODUCT; LAMININ ALPHA2; PROTEIN POMT2; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CASE REPORT; DISEASE ASSOCIATION; FEMALE; GASTROCNEMIUS MUSCLE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPERTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSTERIOR FOSSA; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SCHOOL CHILD; SEQUENCE ANALYSIS; WHITE MATTER;

AMINO ACID SEQUENCE; CHILD; FEMALE; HETEROZYGOTE; HUMANS; HYPERTROPHY; MAGNETIC RESONANCE IMAGING; MANNOSYLTRANSFERASES; MENTAL RETARDATION; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PHENOTYPE; POINT MUTATION;

EID: 33746206200     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.03.016     Document Type: Article

References (9)

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2. Balci B., Uyanik G., Dincer P., et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 15 (2005) 271-275
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7. van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations; from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mut, 2006;27:453-9.
8. Manya H., Chiba A., Yoshida A., et al. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. PNAS 13 (2004) 500-505
9. Ichimiya T., Manya H., Ohmae Y., et al. The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity. J Biol Chem 279 41 (2004) 42638-42647